AADAC

Chr 3

arylacetamide deacetylase

Also known as: CES5A1, DAC

NCBI Gene: 13 ENSG00000114771 UniProt: P22760 OMIM: 600338

Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.94

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.94LOEUF

pLI 0.003

Z-score 1.71

OE 0.48 (0.26–0.94)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.36Z-score

OE missense 0.93 (0.83–1.05)

195 obs / 209.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.48 (0.26–0.94)

0≤0.351.4

Missense OE?0.93 (0.83–1.05)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 6 / 12.5Missense obs/exp: 195 / 209.9Syn Z: -0.60

Background carrier burden — how many people carry a rare variant somewhere in AADAC?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 90

502 rare PASS variants

Rare truncating (LoF)

1 in 1,300

78 rare PASS variants

Rare synonymous (reference)

1 in 230

186 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for AADAC. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 190	1 in 1,300
South Asian	~43k	1 in 83	1 in 720
Remaining (unassigned)	~30k	1 in 97	1 in 590
European (Finnish)	~27k	1 in 540	≈ 1 in 26,000
Admixed American	~22k	1 in 180	1 in 1,800
African / African American	~21k	1 in 140	1 in 1,700
East Asian	~20k	1 in 170	1 in 540
Ashkenazi Jewish	~13k	1 in 490	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 170	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 5 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: 4 of 5 (exon 3 below).? see exons ↓